Mutations

PSEN1 T116R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 5

Findings

This mutation was reported in a study describing the clinical and genetic attributes of 54 Alzheimer's disease cases linked to mutations in PSEN1. The one reported individual with a T116R mutation experienced symptom onset age 35 and died at the age of 43. His APOE genotype was E3/E4. Additional clinical details were not reported, and his family history is not known (Mann et al., 2001).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol. 2001 Jun;158(6):2165-75. PubMed.

Further Reading

Papers

  1. . Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. Neurology. 2014 Jul 15;83(3):253-60. Epub 2014 Jun 13 PubMed.

Protein Diagram

Primary Papers

  1. . Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol. 2001 Jun;158(6):2165-75. PubMed.

Other mutations at this position

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